Variant Details for HMGB1
Basic Information Top
| Gene Symbol: | HMGB1 ( DKFZp686A04236,HMG1,HMG3,SBP-1 ) |
|---|---|
| Gene Full Name: | high-mobility group box 1 |
| Band: | 13q12.3 |
| Quick Links | Entrez ID:3146; OMIM: 163905; Uniprot ID:HMGB1_HUMAN; ENSEMBL ID: ENSG00000189403; HGNC ID: 4983 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 0 | 0 | 0 | 1 | 2 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000265 | 13 | 13q12-13 | 29623000 | 39160000 | 9537000 | loss | external link | Smith, 2002 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Emanuele, 2010 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000125 | 13q12.3 | 13 | D13S217/D13S1229 | 2.3 | - | - | Barrett, 1999 |
| AutLD0000154 | 13q12.11-q12.3 | 13 | rs6490970 | 1.93 | - | - | Allen-Brady, 2010 |